ETFDH gene

The ETFDH gene is responsible for encoding the electron transfer flavoprotein dehydrogenase enzyme. This enzyme plays a crucial role in the metabolism of various fatty acids, amino acids, and choline. Mutations or changes in the ETFDH gene can lead to a group of rare genetic diseases known as glutaric acidemia type II (GA II).

Glutaric acidemia type II is a condition that affects the body’s ability to break down certain proteins and fats. It can result in a range of health problems, including muscle weakness, developmental delays, and seizures. In severe cases, it can lead to life-threatening metabolic crises.

Scientific research on the ETFDH gene and related conditions is constantly evolving, and new information is published regularly. The gene is listed in various genetic testing catalogs and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the gene variant, testing methods, and references to related articles.

Testing for ETFDH gene deficiency involves analyzing the gene for mutations or changes that may affect the function of the enzyme. This can be done through genetic testing using various molecular techniques. The results can help diagnose glutaric acidemia type II and provide important information for managing the condition.

Overall, understanding the ETFDH gene and its role in glutaric acidemia type II is essential for further research and development of therapies for related genetic conditions. The ongoing study of this gene and related genes is crucial for improving diagnosis, treatment, and outcomes for individuals affected by these rare diseases.

Additional Resources:

– OMIM database: detailed information on the ETFDH gene and related genetic conditions

– PubMed: scientific articles and research papers on ETFDH gene deficiency

– Genetic testing catalogs: lists of available tests for ETFDH gene mutations

– Other genetic databases: resources for accessing genetic information and data on related genes

Health Conditions Related to Genetic Changes

Genetic changes in the ETFDH gene can result in various health conditions and diseases. The ETFDH gene provides instructions for making an enzyme called electron transfer flavoprotein dehydrogenase. This enzyme is involved in the breakdown of certain amino acids and fatty acids for energy production. When there is a deficiency or variant in the ETFDH gene, it can lead to the development of different disorders.

  • Glutaric Acidemia Type II (GA2): This is a rare genetic disorder characterized by impaired metabolism of certain fats and proteins. GA2 is caused by mutations in the ETFDH gene that result in reduced or absent enzyme activity, leading to the accumulation of toxic substances in the body. Symptoms include muscle weakness, developmental delays, and metabolic acidosis.
  • Skovby Syndrome: Skovby syndrome is a genetic disorder caused by mutations in the ETFA gene or the ETFB gene, which are closely related to the ETFDH gene. Skovby syndrome is characterized by intellectual disability, muscle weakness, and distinctive facial features.

These conditions are just a few examples of the health conditions related to genetic changes in the ETFDH gene. There may be other diseases and conditions associated with changes in this gene that are not listed here.

For more information on specific genetic changes and associated health conditions, you can consult scientific articles and resources such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide additional information, including names of specific genetic changes, genetic testing information, and references to related scientific articles.

Glutaric acidemia type II

Glutaric acidemia type II, also known as ETFDH deficiency or ETFDH-related disorders, is a genetic disorder caused by changes in the ETFDH gene. It is a type of glutaric acidemia, a group of genetic diseases characterized by impaired metabolism of certain amino acids and fatty acids.

This condition is caused by a deficiency of the enzyme electron transfer flavoprotein-ubiquinone oxidoreductase (ETFQO), which is encoded by the ETFDH gene. This enzyme plays a crucial role in the process of dehydrogenation in the mitochondria.

Clinical features of glutaric acidemia type II can vary widely, but typically include muscle weakness, fatigue, hypoglycemia, metabolic acidosis, and elevated levels of organic acids in urine. Severe cases can present with cardiomyopathy and liver dysfunction.

Diagnosis of glutaric acidemia type II can be done through genetic testing to identify mutations in the ETFDH gene. Additional tests may include measuring enzyme activity levels and analyzing organic acid levels in blood and urine.

Treatment for glutaric acidemia type II mainly focuses on managing symptoms and preventing metabolic crises. This can include dietary modifications, supplementation with specific vitamins and cofactors, and regular monitoring of metabolic status.

For more information on glutaric acidemia type II, you can refer to the following resources:

  • OMIM – An online catalog of human genes and genetic disorders. The page on glutaric acidemia type II provides detailed information on the disorder, including symptoms, inheritance, and molecular basis.
  • PubMed – A database of scientific articles. Searching for “glutaric acidemia type II” will lead you to a variety of research articles and case reports on the condition.
  • GeneTests – A comprehensive genetic testing and information resource. The page on the ETFDH gene provides information on related conditions, testing options, and available resources.
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These resources can provide you with valuable information on glutaric acidemia type II, its genetic basis, diagnostic approaches, and potential treatment options. Additionally, consulting with healthcare professionals specializing in metabolic disorders is crucial for accurate diagnosis and management of this condition.

Other Names for This Gene

  • ETFDH gene
  • ETF dehydrogenation 1 (Dihydrolipoamide)
  • ETFDH, mitochondiral
  • electron transferring-alpha (mitochondrial)
  • Glutaric acidemia II; GAII
  • ETFDH

There are several other names for the ETFDH gene, which is also known as the electron transferring-flavin adenine dinucleotide (FAD)-dependent dehydrogenase gene. This gene is responsible for coding the ETF-QO enzyme, which plays a crucial role in the metabolism of fatty acids and some amino acids.

Glutaric acidemia type II (GAII) is a genetic disorder caused by mutations in the ETFDH gene. This condition leads to a deficiency in the ETF-QO enzyme, resulting in the buildup of toxic substances in the body.

The ETFDH gene is listed on various genetic testing registries and databases, including OMIM (Online Mendelian Inheritance in Man), GeneReviews, and the Genetic Testing Registry. These resources provide additional information on testing options, variant classifications, and related articles.

Scientific articles and references related to this gene can be found on PubMed, a database of biomedical literature. The Skovby and the Acidemia type II databases are also valuable resources for information on diseases and conditions associated with ETFDH gene deficiency.

Additional Information Resources

  • For scientific articles and references on ETFDH gene, glutaric acidemia type II, and related diseases, the following resources can be consulted:
    • Online Mendelian Inheritance in Man (OMIM) database offers comprehensive information on genes, genetic conditions, and associated phenotypes. The OMIM entry for ETFDH gene can be found here.
    • PubMed provides a vast collection of research articles on ETFDH gene and its relationship to various health conditions. The PubMed search results for ETFDH gene can be accessed here.
    • The Genetic Testing Registry (GTR) catalogs information about genetic tests and their associated conditions. Information on ETFDH gene testing can be found here.
  • For information on changes, variants, and types of ETFDH gene, the following resources can be utilized:
    • The Human Gene Mutation Database (HGMD) includes information on gene mutations and their associations with various diseases. ETFDH gene mutations are listed in this database. Access to HGMD can be found here.
    • The ClinVar database offers information on genetic variations and their clinical significance. It provides a summary of ETFDH gene variants and their relationships to specific conditions. The ClinVar entry for ETFDH gene can be accessed here.
  • For more general resources on genes and diseases, the following references may be useful:
    • “Skovby F, Schwartz M. Glutaric Acidemia Type 2. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.” This comprehensive review provides an in-depth overview of glutaric acidemia type II, including its epidemiology, clinical features, genetic testing, and management.
    • “Dehydrogenation, ETF.” This entry in the Medical Subject Headings (MeSH) database provides an overview of the ETF dehydrogenation enzyme.

Tests Listed in the Genetic Testing Registry

The following tests are listed in the Genetic Testing Registry for the ETFDH gene:

Test Name Condition Gene Database Resources
Glutaric acidemia type II, ETFQO deficiency ETFDH related diseases ETFDH OMIM View the test catalog for ETFDH

Additional information about the tests can be found in scientific articles and databases such as PubMed. These resources provide references, names of related genes, variant information, and changes in the ETFDH gene. It is recommended to consult these resources for comprehensive testing information.

Disclaimer: The information provided here is based on publicly available resources and should not replace professional genetic counseling or medical advice. It is important to consult healthcare professionals for accurate and personalized testing recommendations.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the ETFDH gene and its associated diseases. It provides a catalog of articles from various databases, including OMIM and PubMed itself, that contain information on the genetic changes and deficiencies linked to ETFDH-related diseases such as glutaric acidemia type II.

By searching PubMed, you can find additional articles on testing methods, enzyme deficiency, variant types, and other related health conditions. The articles listed in PubMed can provide references, valuable data, and insights into the ETFDH gene and related diseases.

For more information on ETFDH and its associated diseases, you can refer to the following resources:

  • OMIM – A comprehensive catalog of genetic genes and diseases, which includes information on ETFDH-related diseases and the genetic changes associated with them.
  • PubMed – A database that includes scientific articles on various genes and diseases, where you can find articles related to ETFDH and its associated diseases.
  • Genetic Testing Registry – A database that lists genetic tests and the genes they target, including information on ETFDH testing.
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By utilizing these resources, you can access scientific articles and information on the ETFDH gene and its related diseases. This can contribute to a better understanding of the genetic changes, deficient enzyme, and other factors linked to ETFDH-related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a scientific database that provides valuable information about genes and diseases. It contains a comprehensive catalog of genes and associated diseases, including ETFDH gene-related disorders.

OMIM collects information from various sources, including scientific articles, research papers, and registries. It compiles detailed information about different diseases and provides references to relevant scientific studies, such as PubMed articles.

For the ETFDH gene, OMIM lists several related diseases, including glutaric acidemia type II – also known as ETFDH deficiency. Glutaric acidemia type II is an enzyme deficiency that affects the metabolism of certain fats and proteins. It can lead to severe health conditions and requires specific testing and medical management.

In addition to ETFDH gene-related diseases, OMIM also provides information about other genetic conditions and their associated genes. It offers a curated list of genes and their names, along with information on related diseases and health conditions.

OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides a comprehensive catalog of genes and associated diseases, making it easier to access scientific information and stay updated on the latest research findings.

In conclusion, OMIM is a trusted database that provides a catalog of genes and diseases, including the ETFDH gene and related disorders. It offers a wealth of scientific information, references to relevant articles, and resources for genetic testing and health management.

Gene and Variant Databases

Genes are fundamental units of heredity that play a crucial role in determining an individual’s health and susceptibility to certain conditions. Understanding the specific genes and variants associated with various diseases and health conditions is a key aspect of genetics research.

There are several gene and variant databases that provide valuable resources for researchers, healthcare professionals, and individuals interested in learning more about genetic factors related to health. These databases contain comprehensive information on genes, variants, and associated diseases.

One of the most commonly used gene databases is PubMed, which provides access to a vast collection of research articles related to genetics. Researchers can search for specific genes and variants using keywords such as “ETFDH gene” to find relevant articles and studies.

The Gene database is another valuable resource, providing detailed information on genes, their functions, and the diseases they are associated with. Users can search for genes alphabetically or by disease to find relevant information.

The OMIM (Online Mendelian Inheritance in Man) database focuses on genetic disorders and provides detailed information on genes, variants, and associated diseases. It is a valuable resource for understanding the genetic basis of various health conditions.

For specific diseases and conditions related to the ETFDH gene, the Skovby Acyl-CoA dehydrogenation deficiency database provides detailed information on the gene and associated conditions.

In addition to these databases, there are also variant databases that catalog the various changes, or variants, that can occur within a gene. One such database is the EEFQO (Electronic European Fatty Acyl-CoA Dehydrogenase Deficiency Scientific Consortium) Variant Catalog, which provides a comprehensive list of variants associated with ETFDH deficiency.

Genetic testing laboratories often use these databases as references when conducting genetic tests. By comparing an individual’s genetic information to the information in these databases, healthcare professionals can determine the presence of specific gene variants and their potential implications for health.

In summary, gene and variant databases are valuable resources that provide comprehensive information on genes, variants, and associated health conditions. Researchers, healthcare professionals, and individuals can access these databases to gain a better understanding of the ETFDH gene and its role in various health conditions.

References

  • Catalog of Databases: A comprehensive list of databases containing information on genes and genetic diseases can be found on the National Center for Biotechnology Information website.

  • Enzyme Type: ETFDH is an enzyme involved in the dehydrogenation of fatty acids and amino acids.

  • Scientific Articles: A number of scientific articles have been published on the ETFDH gene and related conditions. These articles can be accessed through PubMed.

  • Gene Names: ETFDH is also known by other names, such as ETFA-QO, ETF-QO, and ACADETFQO. These names may be used interchangeably in different resources and literature.

  • Registry Information: Additional information on ETFDH and related gene changes can be found in the Online Mendelian Inheritance in Man (OMIM) database.

  • Genetic Testing: Genetic tests are available to detect mutations in the ETFDH gene and diagnose disorders such as glutaric acidemia type II. These tests can be performed by specialized laboratories.

  • Health Resources: For more information on ETFDH and associated conditions, health resources such as the Skovby Syndrome Foundation and the Glutaric Acidemia Type II Registry can provide valuable information and support.

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